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Congenital Disorder of Glycosylation: Type Ib

  • What is Congenital Disorder of Glycosylation: Type Ib?

    Congenital disorder of glycosylation (CDG) is a group of inherited disorders caused by defects in glycosylation, the process of attaching sugars to proteins and lipids. CDG type Ib, which is also called MPI-CDG, is due to reduced activity of an enzyme called phosphomannose isomerase. CDG-Ib is distinct from most other CDGs in two ways. First, CDG-Ib does not significantly affect the central nervous system. Second, this potentially fatal disorder can be treated. CDG-Ib affects the liver and the gastrointestinal tract. Infants with CDG-Ib present with chronic diarrhea, recurring vomiting, liver problems, low blood sugar, and malnutrition. Severity is variable among affected individuals. CDG-Ib can be treated effectively by lifelong dietary supplements of a particular sugar known as mannose. CDG-Ib is caused by pathogenic variants in the gene MPI.

  • How is Congenital Disorder of Glycosylation: Type Ib inherited?

    CDG-Ib is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

  • What does it mean to be a carrier?

    There are generally no signs or symptoms associated with being a carrier for CDG-Ib. However, the risk to have a child affected with CDG-Ib is increased. Testing of reproductive partners is recommended for carriers of CDG-Ib.

  • How common is Congenital Disorder of Glycosylation: Type Ib?

    CDG-Ib is a rare disease with less than 50 cases reported. The worldwide incidence of disease is unknown and researchers suspect CDG-Ib is under diagnosed.

  • What is analysed?

    Full gene sequencing

AFFECTED SYSTEMS
Liver
Metabolic
Gitract
CARRIER RATES
Ethnicity Detection Rate Carrier Frequency
General Population 94% 1 in 500